List of variants in gene ATP7A reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly)	rs782196306	0.00008
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val)	rs369419911	0.00004
NM_000052.7(ATP7A):c.4227-1G>A	rs782283173	0.00002
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)	rs373634671	0.00001
NM_000052.7(ATP7A):c.1289C>T (p.Thr430Met)	rs782018636	0.00001
NC_000023.10:g.(77284942_77286897)_(77289271_77294333)del
NM_000052.7(ATP7A):c.1329del (p.Leu444fs)	rs2149083474
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)	rs72554640
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln)
NM_000052.7(ATP7A):c.3044G>C (p.Gly1015Ala)	rs2149104921
NM_000052.7(ATP7A):c.3137C>T (p.Thr1046Ile)	rs1064796648
NM_000052.7(ATP7A):c.4385C>G (p.Ala1462Gly)
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
NM_000052.7(ATP7A):c.611-1G>C

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